A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703171



Internal ID15439823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:5181445..5183670hg38UCSC Ensembl
Innerchr5:5181558..5183783hg19UCSC Ensembl
Innerchr5:5234558..5236783hg18UCSC Ensembl
Innerchr5:5234558..5236783hg17UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg382226
hg192226
hg182226
hg172226
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526817
Supporting Variants
Samples
Known GenesADAMTS16
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703171
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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